"Blueprint Genetics"[submitter] AND "BGN"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636703	NM_001711.6(BGN):c.59_60insAA (p.Gln21fs)	BGN (Q21fs)	Insertion (frameshift variant)	Meester-Loeys syndrome +1 more	GLikely pathogenic
Select item 1224409	NM_001711.6(BGN):c.72C>G (p.Phe24Leu)	BGN (F24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636636	NM_001711.6(BGN):c.278C>G (p.Thr93Arg)	BGN (T93R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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